When someone is raised female and the genes say XY

September 12, 2009
By SETH BORENSTEIN , AP Science Writer

(AP) -- It's the birth defect people don't talk about. A baby is born not completely male or female. The old term was hermaphrodite, then intersex. Now it's called "disorders of sexual development." Sometimes the person with the problem doesn't even know it and finds out in an all too public way.

That's been the painful plight of a few female athletes through history. And apparently that's the situation for South African track star Caster Semenya.

Two Australian newspapers reported Friday that gender tests show the world champion athlete has no ovaries or uterus and internal testes that produce large amounts of testosterone. The international sports federation that ordered the tests wouldn't confirm the reports.

Experts say Semenya should be allowed to race as a woman and they cringe at how her case is exploding publicly in the news media. They worry about psychological scars. Two years ago, a star female track athlete who tested male attempted suicide.

Unless she took some illicit substance, Semenya is a female with a birth defect, simple as that, said Dr. Myron Genel, a professor emeritus of pediatrics at Yale University. He was part of a special panel of experts convened by the International Association of Athletics Federations in 1990 that helped end much, but not all, genetic gender testing.

"It's no different in a sense than a youngster who is born with a hole in the heart," Genel said. "These are in fact birth defects in an area that a lot of people are uncomfortable with."

Semenya is hardly alone. Estimates vary, but about 1 percent of people are born with abnormal sex organs, experts say. These people may have the physical characteristics of both genders or a chromosomal disorder or simply ambiguous features.

Sometimes a sexual development problem is all too obvious when a baby is born. Other times, the disorder in girls may not be noticed until puberty, when she doesn't start her period. And still other times, especially with the androgen insensitivity syndrome experts think Semenya might have, it remains hidden until she tries to have a baby - or in the case of an athlete, until she's given a genetic test.

Genetic testing of women over five Olympics found genetic gender issues in 27 out of 11,373 women tested, according to a 2000 Journal of the American Medical Association article. However, none were men deliberately posing as women, as competitors fear.

Dr. Louis Elsas, chairman of biochemistry at the University of Miami and a member of the IAAF panel with Genel, said he had hoped the genetic gender testing issue was over after the 1996 Olympics, when most major sports abandoned regular testing. He recalled having to talk to a female athlete and reveal that she had XY chromosomes and that she'd be infertile. It's something that shouldn't splash onto television, newspapers and the Internet, he said.

"It's a severe emotional trauma," Elsas said.

The concern that women with XY chromosomes have a competitive advantage "is malarkey. We don't segregate athletes by height," said Genel, speaking from an international endocrinology conference in New York that has sessions on intersex issues.

Dr. Joe Leigh Simpson, past president of the American College of Medical Genetics and a member of the IAAF panel, agreed: "Any elite athlete ... has a competitive advantage, or otherwise they wouldn't be an elite athlete."

Simpson, associate dean at Florida International University, said the issue should be simply whether men are masquerading as women. Semenya is clearly a woman, he said.

Nearly all the disorders are caused by genetic mutations, Simpson said. And they usually happen in the first eight weeks of pregnancy, he said.

There are many types of sexual development disorders, all of them rare, but they add up, the experts said. Depending on the particular disorder and individual condition, treatment could involve surgery or hormone therapy or both. The issue is often not just what sex to assign the child, but when to assign it. It used to be that doctors pushed surgery on babies; now many times they wait. Sometimes they wait until the patient is old enough to help make a decision.

David Sandberg, a pediatric psychologist at Michigan, said he advises families to go slowly when deciding whether to raise their child as a boy or girl or whether to have surgery. Treatment varies depending on the disorder, but has become more conservative over the years, he said.

But that's when the problem is noticeable. When it comes to some athletes like Semenya, it's not even known until tests reveal it.

Maria Martinez-Patino knows the issue firsthand. A world-class athlete, she was raised and looked like a normal female and even received the needed "certificate of feminity" to participate in the 1983 World Track and Field Championships in Helsinki, Finland.

In 1985 at the World University Games in Kobe, Japan, her test came back with an XY and she was not allowed to compete. Martinez-Patino had androgen insensitivity, meaning she didn't respond to testosterone. That meant she also didn't have a competitive advantage from having an XY chromosome.

"I sat in the stands that day watching my teammates, wondering how my body differed from theirs," she wrote in the medical journal The Lancet in 2005. "I spent the rest of that week in my room, feeling a sadness that I could not share."

On the Net:

American Academy of Pediatrics consensus statement on intersex disorders:

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Its called Androgen Insensitivity Syndrome idiot... That means androgens like testosterone do not affect her. She doesn't get the increased size, muscle mass, and endurance that comes with testosterone.

All of these experts are worried about Caster Semenya's emotional state, but disconsider the trauma of the athletes that worked hard to compete but are robbed of the podium or the gold because their competitor is effectively a man.

Amy Steri, "Its called Androgen Insensitivity Syndrome idiot... That means androgens like testosterone do not affect her. She doesn't get the increased size, muscle mass, and endurance that comes with testosterone."

The article does not say that Caster Semenya has Androgen Insensitivity Syndrome, but that Maria Martinez-Patino has AIS.

Quote from article: "The concern that women with XY chromosomes have a competitive advantage "is malarkey. We don't segregate athletes by height," said Genel, speaking from an international endocrinology conference in New York that has sessions on intersex issues.

If maleness does not give an athletic advantage then we should have the men and women compete together.

"Unless she took some illicit substance, Semenya is a female with a birth defect, simple as that, said Dr. Myron Genel, a professor emeritus of pediatrics at Yale University."

Ridiculous. This is not a 'she' with a birth defect. This is a 'he' with a birth defect! The 'y' chromosome says so because the presence of a 'y' chromosome is an indicator of maleness. It is a male sex chromosome for the love of Pete!

He should embrace who he is and get surgery and a few hormone shots to set things right. I am sick of these pediatricians who think it is easier to raise such people as girls and teach them to be girls when they are not!

"Its called Androgen Insensitivity Syndrome idiot... That means androgens like testosterone do not affect her.

In order for this to happen 'she' must have two 'x' chromosomes or only one. 'She' has a 'y' chromosome and, therefore, is a 'he' with a birth defect such as testosterone deficiency syndrome or a related syndrome.

What's a bit sad is the notion that this human being suffers a birth "defect." Gender is in part genetics, no doubt. But the fluidity of gender identity is as much a construct of nurture as it is something that physiologically goes beyond XX and XY. S/he is intersex. Because our society, and particularly in the arena of sports, demands the easy polemic of male or female, this presents an interesting set of conflicts.

However, these are not "solved" by insisting that a "failure to assign" (beyond her own choice) a gender means that we should "blame the victim" by calling the condition a "birth defect."

Of course, some people get confused by the notion that there is more than black and white only. But this doesn't alter anything about the fact that there is indeed a whole spectrum with an infinite number of shades and colors.

Why isn't it a humanitarian right to define one's own gender? Gender is not only a matter of the body, it's also a matter of emotional self-awareness. How many people are forced to live in the "wrong body"?

Calling the situation what it is is not blaming the victim. It is not his fault that something caused the chromosomes not to assert themselves properly and made his outward appearance downstairs not male and the testes fail to descend.

The fact is, however, he has no female internal organs so the term 'intersex' does not really apply in the true sense. Had he those internal organs the term properly might apply.

Why isn't it a humanitarian right to define one's own gender? Gender is not only a matter of the body, it's also a matter of emotional self-awareness. How many people are forced to live in the "wrong body"?

Because in biology there is this little chromosome, called a sex-chromosome, that should tell the body what it is to be. Unfortunately, it does not always assert itself properly due to other circumstances.

No one is trapped in the wrong body unless medical doctors tamper with it or the body in formation for whatever reason does not follow its genetic programming.

If there is a 'y' sex chromosome it is an indicator of being genetically male. If there is an 'x' sex chromosome, it is an indicator of female gender in human populations. Period.

XY = boy

XX = girl

XXX = girl

XXY = boy

XYY = boy

XXXX = girl

XXXY = boy

But XY plus XX (or any combination of the above) = true transgender, merged twins and so forth. These should be left alone.

Society has no legitimate right to force an individuum into a gender role against that individuum's self-awareness. The X and Y chromosomes are just a headline which quite often contradicts the content.But it's content what matters, not headlines.

Some people unfortunately still seem to cling to 19th century ideas about the meaning of gender.An adult human is far more than what is defined by her/his chromosomal base equipment. Human beings are to a large extent self-defined and this implies the gender role, too. To deny somebody the self-chosen gender role is not very humane.

You can very perfectly have a male body with a female self-awareness and vice versa. There's no need to "cure" anything as long as it's ok for the owner of the body.

One thing that must be considered when considering the plight of those, like Caster Semenya, that have gender anomolies. There are two questions here:

The first question is how do we, as a society, generally treat those who don't fit into our nice little boxes. Do we, for instance, inform them which of the male and female washrooms to go into.

The second question is how do we protect women's sports from the fact that maleness gives an advantage over women. To the latter question, I think we need to limit Caster Semenya and those like them to protect the sport -- otherwise we should just give up on women's "records" altogether.

Here we go again with leftist agenda clouding science. He is a he and not a she. He is a deformed he, just like a person with one leg is deformed. No fault of his, his parents, or anyone. Just a fact that he and the world has to accept. XY = male whether or not he is deformed, has any male parts, etc. etc. XX = Female even if they have what looks like male parts or lacks female parts.

Crazy leftist loons want to muddy the water to support their agenda for gay rights.

Simple fact is he should not be allowed to compete with women. He is an inocent victim of his genetics, but thats no excuse for him to compete with women.

Yes, there is a lot of leftist propaganda muddying the waters of biology and sociology.

Besides, in the 19th century they did not know for a certainty about X and Y sex chromosomes in humans until the late 19th century. But, they still could not see clearly enough and thought we had 48 diploid chromosomes. The correct knowledge would wait for more powerful microscopes. In the 19th century it only was assumed.

However, it was in the middle of the 20th century that it was made a certainty that there were sex chromosomes. It is scientific fact that the Y chromosome is the male sex chromosome.

I wish people would stop trying to redefine the dictionary like Humpty Dumpty did in "Through the Looking Glass."

I love how genes "assert themselves" - is that crazy rightwing anthropomorphizing genetic material as having god-inspired sentience perhaps? LOL....

Nature AND nurture, you realize. And bigotry/hate is part of the deleterious aspects of nurture that create pyschopathologies. Like hating people who are different because of sexual orientation, sexual identity or ethnicity. Indeed, even the biology of Y chromosomes is more nuanced than the simplistic notions expressed by some here.See http://www.hhmi.o.../gender/ for example.

Everything that we do causes our genes to switch on one way or another. Daily activities such as navigating a road causes slight changes in brain morphology. Identical twins with the same DNA will diverge from one another genetically in terms of which genes switch on and which stay off depending upon habits, environment, choices both good and bad, etc.

But, when a gene is longer or shorter than what it is supposed to be in the general population, that is a mutation. Many are deleterious.

The worst thing is when people insert their agendas into the science as does and has happened.

But, a Y is a Y is a Y, even when it is defective. And the Y sex chromosome is the male sex chromosome in humans, even when it is defective or one of the other sets of genes is defective. And, no attempts at redefining dictionary entries can change that.

Now that we are learning which genes are defective in some people we should be looking for the cure, not meandering about political correctness.

LOL...you want to pretend that politics and science are ever distinct. Utter nonsense. Determining when a Y is "defective" is a judgment call. One that has been used to justify everything from eugenics to claiming homosexuality is a pathology in need of a "cure."

I am glad that you included that little "per se" in your remarks. In a number of cases, people do die from their genetic defects.

GeorgeM111, do you even read half the links to what you post? I just visited the site you referenced. One link was broken but the one I just visited describes karyotyping and said exactly what I just said above about the Y chromosome. And, the result of the test showed that the "female" subject is male.

Science says that the Y chromosome is the male sex chromosome. Period. To say otherwise is an attempt to redefine the science and the dictionary. It may be lacking the SRY gene or even have a defective one but it still is the MALE sex chromosome.

Fact is, if a gene does something or does nothing it is (not) supposed to do, it is defective. Period.

And, you have no idea what my agenda might be.

If a gene switches on and tends toward extinction of a species, it is deleterious and not normal. But that is the nature of evolution, now isn't it?

In addition, there are other factors in the genes that influence body development, it is true (and the site discusses these and tries to justify calling a male a female) but when it comes right down to it, if the genes are defective they are defective. We should be seeking to find ways to repair the mechanism so as to prevent such birth defects rather than getting all PC about the science.

But, even the very site which you reference then goes right on and talks about recessive mutations, genetic defects in the form of X-linked Disorders, and the like!

Here is another matter you fail to discuss properly. In the case of the athlete who is the subject of this article, he does not even fit the usual profile of a CAIS individual that many in the medical community for the sake of ease would define as a girl!

The usual profile is to have at least some female internal organs. In this individual's case, there are no ovaries, no rudimentary fallopian tubes and no uterus. Therefore, the information you submitted does not truly apply in her case.

Even this above article clearly states: "Nearly all the disorders are caused by genetic mutations."

Again we come full circle. Genetic mutations are mutations that are, in this case and cases like it, deleterious to the survival of the human race.

The way you prate on, dach, it makes me wonder sometimes if the human race is destined to survive or not.

The point you fail to take is that gender is not so dimorphic--and that is not necessarily a "defect" or a "disorder" (notwithstanding claims to the contrary). In some cases, anatomic female attributes are belied by the presence of a Y, as here: http://www.physor...686.html .

What I'm trying to get across is that to say "he" or "she" is first of all limiting and inadequate for some otherwise healthy individuals. To the extent that it is appropriate, I believe that should be a personal decision.

You say: Fact is, if a gene does something or does nothing it is (not) supposed to do, it is defective. Period.

Well, that's not a "fact"--it is a judgment call on what a gene does or does not do. More accurately, if failure to express or overexpression results in distinctive pathology with increased morbidity and mortality, that's a disease.

Every human being is a complex entity comprising soma (body), psychi (emotions), and nous (reason) on all of which depends nearly every aspect of life.Assessing any aspect of human life exclusively by its physical components is a procrustean approach.

defunctdiety

Now THAT is a more pertinent question. I don't have an easy answer for that and what I suggest is that whether she is female "enough" to compete against other women is not entirely clear to me. I'm delighted it is so easy for you--and the consensus among her colleagues and community may be with you. My argument is simply that her condition is not a birth defect.

If she identifies herself as a woman, that is great and the world NEEDS to respect that on a personal level. But you CANNOT and SHOULD NOT take that in to the professional sport arena. If she has XY chromosomes that lead to internal testes, she cannot be allowed to compete with women in competitive sport, simple as that.

As for those pushing their "mental and emotional" identity agendas here, take it elsewhere. Under your moronic paradigm, we would have to allow any "full-blooded" dude who identifies himself as a woman to compete with women, idiotic.

I can't believe there has to be a world-wide debate over this. I feel so sorry for Ms. Semenya, genetics dealt her a cruel hand.

Ah...you say: "Under your moronic paradigm, we would have to allow any "full-blooded" dude who identifies himself as a woman to compete with women, idiotic."

I never suggested that. Most "full-blooded" "dudes" I've known who identify as female have generally not been into competitive sports as a profession, so that issue rarely arises. Or vice versa. That just makes you sound a bit panicky.

Most "full-blooded" "dudes" I've known who identify as female have generally not been into competitive sports as a profession...

Thats nothing more than an unsubstantiated generalization, i.e. guaranteed to have exceptions. I wasn't even talking to you specifically.

There is lot's of money in professional sports. Such a policy is unsound from it's very basis, and just begs to be taken advantage of.

I never suggested that.

And supporting the idea that a persons "mental and emotional" gender identity should factor into their sport "classification" does de facto suggest this. And if you weren't suggesting this, than why did you even talk about it mattering in this application, because that's what we're talking about here.

I was responding to you specifically which happens in threads like this sometimes. Of course,"lots of money" has been the basis for all sorts of unsound nonsense, bigotry, etc. However, you are correct, my statement was only a personal observation. And again, I don't really have an opinion on whether this individual should have been disqualified from competition.

My view, again, is that referring to her condition as a birth defect is at the least debatable.

The point you fail to take is that gender is not so dimorphic--and that is not necessarily a "defect" or a "disorder" (notwithstanding claims to the contrary). In some cases, anatomic female attributes are belied by the presence of a Y, as here: http://www.physor...686.html .

Still a Y chromosome. It may be a defective Y but it still is a Y. The person is male but the defective chromosome does not function properly. End of story. It is a birth defect in a male. Period.

Well, that's not a "fact"--it is a judgment call ...

No, it is a fact--and a scientific fact at that. We have learned what a range of genes are supposed to do. When they do not do as they should or are deformed by mutation, there are consequences. But, if there is a Y the person is a male in spite of the birth defect that prevents normal function of the genes to make that fact apparent on the outside.

My view, again, is that referring to her condition as a birth defect is at the least debatable.

I (dis)agree, I don't think it's even at least debatable. It's a hurdle our society has yet to overcome.

I think you meant to include the "dis" in your comment. If so, I agree with you. It is not debateable and is more a hurdle that society needs to get past and accept. "She" is a male with a birth defect.

If a baby is born with a trisomal disorder such as Down's syndrome, the baby has a birth defect. That can fairly readily be accepted in society but the person who claims another kind of genetic defect as a birth defect when dealing with gender the person be damned to hell! Typical of those who wish to redefine dictionary entries. :)

It still is a birth defect. And, the worse thing about it is that if he is not surgically given a "sack" and the testes placed therein where they belong, he is at risk for cancer in the very near future.

dmcl

Boy my post really started something. Let me make my point clearly. Sex is in the brain. If the brain is female them she is female, if it is male, then she is male. She has the right to live as a she. But when it comes to sports, she is far more he than she. So she should race with the he's or not play at all. And one more thing is there are few supermale or superfemales, by far most of us are a combo of both. An she has the body of a man far more than a women.

> Still a Y chromosome. It may be a defective Y but> it still is a Y. The person is male but the> defective chromosome does not function properly.> End of story. It is a birth defect in a male.> Period.

While I do NOT think that science is ultimately politics, or that gender is a mere matter of nurture and choice, this obsession with the "Y" chromosome sounds a bit crazy to me.

Suppose a person has a "Y" chromosome that does not do its job at all and never did. That defect has never been detected, and the person has grown and lived as an apparently perfectly normal female. Then one day, doctors discover the hidden "Y" chromosome. Should that person be "cured" in the name of science? Should she be forced to change her name? Should she all of a sudden become a "he", undergo sex change surgery, etc?

I would advocate leaving things as they are (as long as that is the person's wish), rather than begin an extensive and torturous medical treatment, just because of a stupid chromosome.

In addition, surgical options are nowhere near as bad as they were, say, decades ago.

But, all this said, I do not believe that anyone should be forced to change his/her sex based on chromosome compliment. It is a birth defect, yes, but not all birth defects are life threatening. A lot are so but not all.

But, in my case, I prefer to have a wife that is a woman. Mine is, and for that I am grateful. A "woman" who is really a man is not to my taste and could not have borne to me the children I have. To each his/her own preference.

As to a cure, hopefully, one day, a way will be found to prevent such birth defects as with any other kind of birth defect.

Well, what definition(s) or (scientific) fact(s) have not changed over time?

"No, it is a fact--and a scientific fact at that. We have learned what a range of genes are supposed to do. When they do not do as they should or are deformed by mutation, there are consequences. But, if there is a Y the person is a male in spite of the birth defect that prevents normal function of the genes to make that fact apparent on the outside."

Hmmm, more specifically -

"We have learned what a range of genes are supposed to do."

I'm not ready to assume, judge over or remove all those genes that supposedly do nothing or lie forever dormant.

I agree with both of you - referring to her condition as a birth defect is a hurdle society (I believe) will overcome.

I think you misunderstand. I am not speaking concerning so-called junk DNA. I am referring to the genes that we know have functions. When these genes become defective and cease to function properly, or even cease to function at all, they need to be fixed one way or another.

Our technology (gene therapy) is near to being able to correct such problems but for now only can do some of it temporarily.

Of course, I suppose that is what natural selection is for--to eliminate from the genome what ceases to function. Perhaps we should do nothing and hope for the best.

I, of course, do not agree with that premise but there are those who do.

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